Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/194227
Type: Artigo de periódico
Title: Prothrombin Mutant, Factor V Leiden, And Thermolabile Variant Of Methylenetetrahydrofolate Reductase Among Patients With Sickle Cell Disease In Brazil.
Author: Andrade, F L
Annichino-Bizzacchi, J M
Saad, S T
Costa, F F
Arruda, V R
Abstract: The prevalence of the prothrombin gene variant (allele 20.210 A), factor V Leiden mutation, and homozygosity for transition 677C-->T in the methylenetetrahydrofolate reductase (MTHFR) gene was determined among patients with sickle cell disease (SCD). The group included 73 patients with median age of 32.3 years with a diagnosis of sickle cell anemia in 53 patients, hemoglobinopathy SC in 16 patients, and four with S/beta(0) thalassemia. Vascular complications such as ischemic stroke or deep vein thrombosis were diagnosed in nine patients. Heterozygosity for the prothrombin gene variant or factor V Leiden mutation was identified in four patients. However, only one patient, who developed ischemic stroke, was identified as a carrier of factor V Leiden mutation. None of the patients presented homozygosity for the thermolabile variant of the MTHFR. These data suggest a low clinical impact of inherited hypercoagulability risk factors in developing thrombosis, occlusive stroke, or mortality data among patients with SCD in Brazil.
Subject: Adolescent
Adult
Anemia, Sickle Cell
Brazil
Factor V
Female
Gene Frequency
Genetic Variation
Heterozygote
Homozygote
Humans
Leg Ulcer
Male
Methylenetetrahydrofolate Reductase (nadph2)
Middle Aged
Mutation
Osteonecrosis
Oxidoreductases Acting On Ch-nh Group Donors
Prevalence
Priapism
Prothrombin
Temperature
Thromboembolism
Rights: fechado
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/9723576
Date Issue: 1998
Appears in Collections:Unicamp - Artigos e Outros Documentos

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